Background While some factors of breast morphology, such as density, are directly implicated in breast cancer, the relationship between breast size and cancer is less clear. Breast size is moderately heritable, yet the genetic variants leading to differences in breast size have not been identified. Methods To investigate the genetic factors underlying breast size, we conducted a genome-wide association study (GWAS) of self-reported bra cup size, controlling for age, genetic ancestry, breast surgeries, pregnancy history and bra band size, in a cohort of 16,175 women of European ancestry. Results We identified seven single-nucleotide polymorphisms (SNPs) significantly associated with breast size (p<5·10−8): rs7816345 near ZNF703, rs4849887 and (independently) rs17625845 flanking INHBB, rs12173570 near ESR1, rs7089814 in ZNF365, rs12371778 near PTHLH, and rs62314947 near AREG. Two of these seven SNPs are in linkage disequilibrium (LD) with SNPs associated with breast cancer (those near ESR1 and PTHLH), and a third (ZNF365) is near, but not in LD with, a breast cancer SNP. The other three loci (ZNF703, INHBB, and AREG) have strong links to breast cancer, estrogen regulation, and breast development. Conclusions These results provide insight into the genetic factors underlying normal breast development and show that some of these factors are shared with breast cancer. While these results do not directly support any possible epidemiological relationships between breast size and cancer, this study may contribute to a better understanding of the subtle interactions between breast morphology and breast cancer risk.
A Twin Study of Breastfeeding With a Preliminary Genome-Wide Association Scan, Twin Research and Human Genetics
穿内衣，咪咪长不大？真正决定大小的是_澎湃号·政务_澎湃新闻-The Paper
Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk
A human breast atlas integrating single-cell proteomics and transcriptomics - ScienceDirect
Impact of Measurement Error on Testing Genetic Association with Quantitative Traits
2012 in science - Wikipedia
Predicting breast cancer risk using interacting genetic and demographic factors and machine learning
Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation - ScienceDirect
Why are breasts different sizes?
The genetic ancestry of African, Latino, and European Americans across the United States
人脸和咪咪的对称美学_百科TA说
Gene variants associated to breast cancer risk - Abyntek Biopharma
